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Prenatal and postnatal findings in small‐for‐gestational‐age fetuses without structural ultrasound anomalies at 18–24 weeks

Ultrasound in obstetrics & gynecology, 2017-03, Vol.49 (3), p.342-348

2017

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Survival and prognostic factors in BRCA1-associated breast cancer

Annals of oncology, 2006-03, Vol.17 (3), p.391-400

2006

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Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.437-445

2016

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Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature

American journal of medical genetics. Part A, 2007-09, Vol.143A (18), p.2204-2212

2007

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A Novel AMH Missense Mutation in a Patient with Persistent Müllerian Duct Syndrome

Sexual development, 2012-01, Vol.6 (6), p.279-283

2012

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Variable Loss of Functional Activities of Androgen Receptor Mutants in Patients with Androgen Insensitivity Syndrome

Sexual development, 2013-01, Vol.7 (5), p.223-234

2013

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Molecular Analysis of the Androgen-Receptor Gene in a Family with Receptor-Positive Partial Androgen Insensitivity: An Unusual Type of Intronic Mutation

American journal of human genetics, 1997-11, Vol.61 (5), p.1067-1077

1997

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Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome

The journal of clinical endocrinology and metabolism, 1997-11, Vol.82 (11), p.3584-3589

1997

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Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome

Pediatric research, 1999-12, Vol.46 (6), p.684-690

1999

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Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM)

American journal of human genetics, 1993-11, Vol.53 (5), p.1016-1023

1993

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Androgen receptor mutations

Journal of steroid biochemistry and molecular biology, 1995-06, Vol.53 (1), p.443-448

1995

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Molecular basis of androgen insensitivity

The Journal of steroid biochemistry and molecular biology, 1996-08, Vol.58 (5), p.569-575

1996

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SESSION 05: EARLY PREGNANCY

Human reproduction (Oxford), 2012-07, Vol.27 (suppl_2), p.ii9-ii11

2012

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The role of DNA dependent protein kinase in synapsis of DNA ends

Nucleic acids research, 2003-12, Vol.31 (24), p.7238

2003

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Different types of V(D)J recombination and end‐joining defects in DNA double‐strand break repair mutant mammalian cells

European journal of immunology, 2002-03, Vol.32 (3), p.701-709

2002

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HLA frequencies and associations in cystic fibrosis

Tissue antigens, 2014-01, Vol.83 (1), p.27-31

2014

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Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects

Journal of the neurological sciences, 1995-05, Vol.129 (MAI), p.56-57

1995

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Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing

Application of clinical genetics, 2023-01, Vol.16, p.89-97

2023

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Residual N-acetyl-[alpha]-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.437

2016

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Familial gigantism caused by an NSD1 mutation

American journal of medical genetics. Part A, 2005-11, Vol.139A (1), p.40-44

2005

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Post-zygotic mutations and somatic mosaicism in androgen insensitivity syndrome

Trends in genetics, 2001-11, Vol.17 (11), p.627-628

2001

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Substitution of Ala564 in the first zinc cluster of the deoxyribonucleic acid (DNA)-binding domain of the androgen receptor by Asp, Asn, or Leu exerts differential effects on DNA binding

Endocrinology (Philadelphia), 1998-01, Vol.139 (1), p.103-110

1998

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Influence of sex of the transmitting parent as well as of parental allele site on the CTG expansion in myotonic dystrophy (DM)

American journal of human genetics, 1993-11, Vol.53 (5), p.1016-1023

1993

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Laboratoriumonderzoek van erfelijke metabole ziekten: lysosomale stapelingsziekten

Tijdschrift voor kindergeneeskunde, 2010, Vol.78 (2), p.49-56

2010

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Response to letter to the editor: ‘Gonadal tumour screening in XY gonadal dysgenesis’

Clinical endocrinology (Oxford), 2024-05, Vol.100 (5), p.466-467

2024

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Prenatal and postnatal findings in small‐for‐gestational‐age fetuses without structural ultrasound anomalies at 18–24 weeks

Survival and prognostic factors in BRCA1-associated breast cancer

Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature

A Novel AMH Missense Mutation in a Patient with Persistent Müllerian Duct Syndrome

Variable Loss of Functional Activities of Androgen Receptor Mutants in Patients with Androgen Insensitivity Syndrome

Molecular Analysis of the Androgen-Receptor Gene in a Family with Receptor-Positive Partial Androgen Insensitivity: An Unusual Type of Intronic Mutation

Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome

Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome

Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM)

Androgen receptor mutations

Molecular basis of androgen insensitivity

SESSION 05: EARLY PREGNANCY

The role of DNA dependent protein kinase in synapsis of DNA ends

Different types of V(D)J recombination and end‐joining defects in DNA double‐strand break repair mutant mammalian cells

HLA frequencies and associations in cystic fibrosis

Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects

Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing

Residual N-acetyl-[alpha]-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

Familial gigantism caused by an NSD1 mutation

Post-zygotic mutations and somatic mosaicism in androgen insensitivity syndrome

Substitution of Ala564 in the first zinc cluster of the deoxyribonucleic acid (DNA)-binding domain of the androgen receptor by Asp, Asn, or Leu exerts differential effects on DNA binding

Influence of sex of the transmitting parent as well as of parental allele site on the CTG expansion in myotonic dystrophy (DM)

Laboratoriumonderzoek van erfelijke metabole ziekten: lysosomale stapelingsziekten

Response to letter to the editor: ‘Gonadal tumour screening in XY gonadal dysgenesis’

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